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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Among authors: erdal s. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Among authors: erdal s. Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30. Biosci Rep. 2017. PMID: 28396517 Free PMC article.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Pakdaman Y, Berland S, Bustad HJ, Erdal S, Thompson BA, James PA, Power KN, Ellingsen S, Krooni M, Berge LI, Sexton A, Bindoff LA, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Among authors: erdal s. Int J Mol Sci. 2021 May 30;22(11):5870. doi: 10.3390/ijms22115870. Int J Mol Sci. 2021. PMID: 34070858 Free PMC article.
Prevalence of hirsutism in Turkey: Data of the dermatoendocrinology study group.
Cebeci Kahraman F, Temiz SA, Erdoğan SS, Öztürk P, Güven M, Çelik HA, Tellal ES, Akbayrak A, Selçuk LB, Akbulak Ö, Emre S, Gençoğlan G, Ataseven A, Kaya Erdoğan H, Ertekin SS, Taşolar MK, An İ, Öztürk M, Karakuzu A, Erdal SA, Solak SS, Albayrak H, Cömert Özer E, Bayramgürler D, Özgöztaşı O, Yulek T, Aydoğan K, Zindancı İ, Çalıkoğlu E, Kuş C. Cebeci Kahraman F, et al. Among authors: erdal sa. J Eur Acad Dermatol Venereol. 2023 Dec 26. doi: 10.1111/jdv.19763. Online ahead of print. J Eur Acad Dermatol Venereol. 2023. PMID: 38147489 No abstract available.
88 results